Overview

Schinzel-Giedion syndrome is a rare genetic syndrome. Common symptoms include kidney and urinary malformations, skeletal abnormalities, severe developmental delay, and a characteristic facial appearance.[1][2][3] Recurrent pneumonia, feeding intolerance, and seizures are frequent difficulties in the care of affected children.[4] The underlying genetic defect that causes the condition has not yet been identified.

Last updated: 1/20/2009

References

Minn et al.. Further Clinical and Sensorial Delineation of Schinzel-Giedion Syndrome: Report of Two Cases. American Journal of Medical Genetics. 2002;

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Basic Information

The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.

Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

PubMed is a searchable database of medical literature and lists journal articles that discuss Schinzel Giedion syndrome. Click on the link to view a sample search on this topic.